Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.20637956G>C , CM000663.2:g.20637956G>C | GRCh38 |
| NC_000001.10:g.20964449G>C , CM000663.1:g.20964449G>C | GRCh37 |
| NC_000001.9:g.20837036G>C | NCBI36 |
| NG_008164.1:g.9502G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032409.3:c.502G>C MANE Select | NP_115785.1:p.Ala168Pro |
| ENST00000321556.5:c.502G>C MANE Select | ENSP00000364204.3:p.Ala168Pro |
| NM_032409.2:c.502G>C | NP_115785.1:p.Ala168Pro |
| ENST00000321556.4:c.502G>C | ENSP00000364204.3:p.Ala168Pro |